MCID: LCY001
MIFTS: 24

Lucey-Driscoll Syndrome malady

Genetic diseases, Rare diseases, Liver diseases categories
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Summaries for Lucey-Driscoll Syndrome

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NIH Rare Diseases:42 Lucey-driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. it occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  if untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. treatment for lucey-driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition. last updated: 11/15/2010

MalaCards based summary: Lucey-Driscoll Syndrome, also known as transient familial neonatal hyperbilirubinemia, is related to gilbert syndrome and hyperbilirubinemia transient familial neonatal, and has symptoms including An important gene associated with Lucey-Driscoll Syndrome is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1). Affiliated tissues include eye, skin and liver.

Description from OMIM:46 237900

Aliases & Classifications for Lucey-Driscoll Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Lucey-Driscoll Syndrome, Aliases & Descriptions:

Name: Lucey-Driscoll Syndrome 42 22 48 62
Transient Familial Neonatal Hyperbilirubinemia 42 20 48
Hyperbilirubinemia, Familial Transient Neonatal 46
 
Hyperbilirubinemia, Transient Familial Neonatal 62
Transient Familial Hyperbilirubinemia 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases
Orphanet: 48 
Rare hepatic diseases


External Ids:

OMIM46 237900
ICD10 via Orphanet26 P59.8

Related Diseases for Lucey-Driscoll Syndrome

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Diseases related to Lucey-Driscoll Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gilbert syndrome10.3
2hyperbilirubinemia transient familial neonatal10.3
3acute lymphoblastic leukemia9.9UMOD, UGT1A1

Symptoms for Lucey-Driscoll Syndrome

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Symptoms by clinical synopsis from OMIM:

237900

Clinical features from OMIM:

237900

HPO human phenotypes related to Lucey-Driscoll Syndrome:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 jaundice HP:0000952
3 kernicterus HP:0001343
4 neonatal unconjugated hyperbilirubinemia HP:0008176
5 cerebral palsy HP:0100021

Drugs & Therapeutics for Lucey-Driscoll Syndrome

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Drug clinical trials:

Search ClinicalTrials for Lucey-Driscoll Syndrome

Search NIH Clinical Center for Lucey-Driscoll Syndrome

Genetic Tests for Lucey-Driscoll Syndrome

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Genetic tests related to Lucey-Driscoll Syndrome:

id Genetic test Affiliating Genes
1 Transient Familial Neonatal Hyperbilirubinemia20 UGT1A1
2 Lucey-Driscoll Syndrome22

Anatomical Context for Lucey-Driscoll Syndrome

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MalaCards organs/tissues related to Lucey-Driscoll Syndrome:

32
Eye, Skin, Liver

Animal Models for Lucey-Driscoll Syndrome or affiliated genes

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Publications for Lucey-Driscoll Syndrome

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Variations for Lucey-Driscoll Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Lucey-Driscoll Syndrome:

64
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Tyr486AspVAR_007709
2UGT1A1p.Gly71ArgVAR_009504rs4148323

Clinvar genetic disease variations for Lucey-Driscoll Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1UGT1A1*28duplicationPathogenicrs34983651GRCh37Chr 2, 234668880: 234668893
2NM_000463.2(UGT1A1): c.211G> A (p.Gly71Arg)single nucleotide variantPathogenicrs4148323GRCh37Chr 2, 234669144: 234669144
3NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp)single nucleotide variantPathogenicrs34993780GRCh37Chr 2, 234681059: 234681059
4NM_000463.2(UGT1A1): c.-1352A=single nucleotide variantPathogenicrs3755319GRCh37Chr 2, 234667582: 234667582

Expression for genes affiliated with Lucey-Driscoll Syndrome

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Expression patterns in normal tissues for genes affiliated with Lucey-Driscoll Syndrome

Search GEO for disease gene expression data for Lucey-Driscoll Syndrome.

Pathways for genes affiliated with Lucey-Driscoll Syndrome

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Compounds for genes affiliated with Lucey-Driscoll Syndrome

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GO Terms for genes affiliated with Lucey-Driscoll Syndrome

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Products for genes affiliated with Lucey-Driscoll Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Lucey-Driscoll Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet